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Variant (rsID / SNP)

rs139582106

AMPD1

rs139582106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD1. Location: chromosome 1, position 115,226,899. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AMPD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:115226899
Cytoband
1p13.2
HGVS
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
Allele change
Missense_Q185H

Associated conditions / phenotypes

Muscle AMP deaminase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.